【佳學基因檢測】肚子里的胎兒有三個月了,疾病風險評估GABRB3突變,該怎么辦?
基因檢測的序列名稱:
GABRB3
人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼:
2562
人體基因序列數(shù)據(jù)庫中國際交流名稱全稱
gamma-aminobutyric acid type A receptor beta3 subunit
中國數(shù)據(jù)庫中基因全稱:
γ-氨基丁酸A型受體beta3亞基
基因檢測報告英文版基因簡介
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
基因突變所影響的基因信息
該基因編碼配體門控離子通道家族的成員。編碼的蛋白質是多亞基氯通道的亞基之一,可作為γ-氨基丁酸的受體,γ-氨基丁酸是哺乳動物神經系統(tǒng)的主要抑制性神經遞質。該基因位于15號染色體的長臂上,與其他兩個編碼該家族相關亞基的基因成簇。該基因可能與多種疾病的發(fā)病機理有關,包括安吉曼綜合癥,普拉德-威利綜合癥,非綜合征性口面部裂痕,癲癇和自閉癥。已經描述了編碼不同同工型的選擇性剪接的轉錄變體。[由RefSeq提供,2013年7月]
國際國內該堿基基因序列的其他英語文字母簡稱:
ECA5, EIEE43
基因解碼對該基因序列在細胞核中的染色體所給予的編號:
該基因序列位于人類第15號染色體上。
基因解碼對基因序列的正確定位
該基因序列在GRCh37版本中的起始位置坐標為:26788693;結束位置坐標為:27018935。該基因序列在GRCh38版本中的起始位置坐標為:26543546;結束位置坐標為:26773788。正確的基因信息定位是基因檢測和對檢測結果進行正確解讀的關鍵。
佳學基因解碼對該基因的功能分類:國際版
Transporters/Transporter channels and pores
基因解碼對該基因的功能分類:中文版
轉運體/轉運體通道和孔
結構與功能基因解碼所揭示的該基因在細胞內發(fā)揮作用的場所(國際版):
正在通過基因解碼技術進行收集、查證并編輯,請關注佳學基因,獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內容
結構與功能基因解碼所揭示的該基因發(fā)揮作用的細胞內位置(中文版):
正在通過基因解碼技術進行收集、查證并編輯,請關注佳學基因,獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內容
該基因序列變化后增加的疾病風險(國際版):
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; Isodicentric Chromosome 15 Syndrome; Sleep Initiation and Maintenance Disorders; Angelman Syndrome; Atypical absence seizure; EEG with focal sharp slow waves; Lennox-Gastaut syndrome; EPILEPSY, CHILDHOOD ABSENCE, 1; Brainstem abnormalities; Personality Disorders; Hypertonic seizures; Epileptic drop attack; Hypotonic seizures; Autistic behavior; Absence Epilepsy; Mental deterioration; Encephalopathies; Tonic - clonic seizures; Aggressive behavior; Aggressive reaction; Autism Spectrum Disorders; Physical aggression; Myoclonus; Hyperactive behavior; Craniofacial Abnormalities; Mental Depression; Autistic Disorder; Alcoholic Intoxication, Chronic; Depressive disorder; Bipolar Disorder; Epilepsy; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia
如果該基因突變后,風險可能增加的疾病類型(中文版):
癲癇癥童年缺席易感2型; 15 號染色體等雙著絲粒綜合征;睡眠啟動和維持障礙;天使綜合癥;非典型失神發(fā)作;腦電圖伴有局灶性尖銳慢波; Lennox-Gastaut 綜合征;癲癇兒童缺失2型;腦干異常;人格障礙;高滲性癲癇發(fā)作;癲癇發(fā)作;低滲性癲癇發(fā)作;自閉癥行為;失神性癲癇;精神衰退;腦病;強直 - 陣攣發(fā)作;攻擊性行為;攻擊性反應;自閉癥譜系障礙;身體攻擊;肌陣攣;多動行為;顱面異常;精神抑郁癥;自閉癥;酒精中毒慢性;抑郁癥;躁郁癥;癲癇;智力遲鈍;智力低下;智力低下;精神缺陷;學習成績差;智力殘疾;精神分裂癥
GWAS基因檢測所建立的與該基因的疾病關聯(lián)(國際版):
Longevity
GWAS基因檢測所解碼的該基因突變會增加風險的疾病種類(中文版):
長壽
以該基因做靶點的藥物(國際版):
Temazepam (Gaba-gated chloride ion channel activity);Adinazolam (Gaba-gated chloride ion channel activity);Piperazine (Gaba-gated chloride ion channel activity);Ivermectin (Gaba-gated chloride ion channel activity);Midazolam (Gaba-gated chloride ion channel activity);Flurazepam (Gaba-gated chloride ion channel activity);Halazepam (Gaba-gated chloride ion channel activity);Propofol (Gaba-gated chloride ion channel activity);Diazepam (Gaba-gated chloride ion channel activity);Oxazepam (Gaba-gated chloride ion channel activity);Triazolam (Gaba-gated chloride ion channel activity);Ethanol (Gaba-gated chloride ion channel activity);Estazolam (Gaba-gated chloride ion channel activity);Bromazepam (Gaba-gated chloride ion channel activity);Clotiazepam (Gaba-gated chloride ion channel activity);Fludiazepam (Gaba-gated chloride ion channel activity);Prazepam (Gaba-gated chloride ion channel activity);Quazepam (Gaba-gated chloride ion channel activity);Cinolazepam (Gaba-gated chloride ion channel activity);Nitrazepam (Gaba-gated chloride ion channel activity);Fospropofol (Gaba-gated chloride ion channel activity)
針對該基因所產生的突變,可能有正確效果的藥物(中文版):
替馬西泮(Gaba-門控氯離子通道活性);阿地那唑侖(Gaba-門控氯離子通道活性);哌嗪(Gaba-門控氯離子通道活性);伊維菌素(Gaba-門控氯離子通道活性);咪達唑侖(Gaba-門控氯離子通道)離子通道活性);氟拉西泮(Gaba-門控氯離子通道活性);哈拉西泮(Gaba-門控氯離子通道活性);異丙酚(Gaba-門控氯離子通道活性);地西泮(Gaba-門控氯離子通道活性);奧沙西泮(Gaba-門控氯離子通道活性);三唑侖(Gaba-門控氯離子通道活性);乙醇(Gaba-門控氯離子通道活性);艾司唑侖(Gaba-門控氯離子通道活性);溴西泮(Gaba-門控氯離子通道通道活性);氯噻西泮(Gaba-門控氯離子通道活性);氟地西泮(Gaba-門控氯離子通道活性);Prazepam(Gaba-門控氯離子通道活性);Quazepam(Gaba-門控氯離子通道活性);Cinolazepam( Gaba-門控氯離子通道活性);硝西泮(Gaba-門控氯離子通道活性);磷丙泊酚(Gaba-門控氯離子通道活性)
(責任編輯:佳學基因)